About Ronan

CHARGE Syndrome occurs in one of every 10,000 births.  Although it isn't the rarest of disorders, the way it affects each child is completely different.  While one child may spend his or her first years in and out of the hospital, another may have relatively few medical issues that demand hospitalizations.  Even children with the exact same CHARGE mutation will be affected differently. 

About CHARGE Syndrome
CHARGE Syndrome can be diagnosed either genetically or clinically.  Two-thirds of individuals with CHARGE Syndrome will have a CHD7 genetic mutation.  The other one-third will be diagnosed clinically.  To be diagnosed clinically, an individual must have 4 major markers, or 3 major markers with several minor characteristics.

Major Markers

  • Coloboma of the eye: A "cleft", so to speak, of part of the eye.  It can be of the iris, retina, or optic nerve.
  • Choanal atresia or stenosis: A blockage or narrowing of the nasal passages
  • Cranial nerve abnormality: Most commonly affects sense of smell, swallowing, and/or facial movements
  • Ear abnormalities:  Can be outer, middle, or inner ear abnormalities, possibly affecting hearing
Minor Markers
  • Heart defects
  • Cleft lip/palate
  • Trancheo-esophageal fistula
  • Kidney or genital abnormalities
  • Growth deficiencies 
  • and several more...

Ronan's CHARGE Diagnosis
For over a year, we struggled to get a definitive diagnosis.  Paul and I actually presented the diagnosis to various doctors first.  While some doctors would tell us immediately that Ronan had CHARGE, others were not so sure.  After Ronan had a high-res MRI in December of 2012, we got our clinical diagnosis.  Ronan meets three of the major criteria: ear abnormalities, cranial nerve abnormalities, and colobomas in both eyes.  He also has one, arguably two, minor markers: a heart defect and possibly growth deficiencies.  The MRI was able to confirm the cranial nerve abnormalities (Ronan developed his facial palsy, so it wasn't clear if there was an abnormality of the nerve or if there was another cause).  Ironically, four days after his clinical diagnosis, we received our genetic results.  Ronan has a CHD7 mutation, which genetically diagnoses him.

How CHARGE affects Ronan
Early on, we received a lot of "doom and gloom" prognoses with Ronan.  He would be deaf, he would be blind.  His heart was worse than we thought.  It would be very difficult to communicate with him.  He may not be able to walk.  I could go on and on. 

One by one, those prognoses proved wrong.  Fast forward a year and a half, and Ronan is babbling up a storm.  He starting to sign.  He can say da-da and has said ma-ma once, staring up at my face.  *heart melts*  Ronan wears hearing aids, but sound is definitely getting through.  Ronan wears glasses, but definitely sees.  Ronan's heart is doing remarkably well, with a follow up surgery no where in sight.  While not crawling or walking, he's been making a lot of progress with standing and getting ready to crawl. 

Ronan does have delays and is a medically complex child, but he is the happiest little boy.  The kid has more personality than, well, some adults I know!  I remember early on in our journey, my biggest worry was if Ronan would know I was his mother and loved him.  Sounds silly, but given his issues with hearing and vision, it felt like a possibility.  I can remember very distinctly holding him, crying, trying to think about what I would do so he would know me, and would know my love for him.  Now when I get home from work, I usually get a squeal of delight from him, and a smile that would melt anyone's heart. 

No comments:

Post a Comment